Full data view for gene KCNQ1

Information The variants shown are described using the NM_000218.2 transcript reference sequence.

1067 entries on 11 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_1i c.-97652_386+22686del - r.0? p.0? Maternal (confirmed) g.[1565894_1565895ins126;1565895_1565902del15659801_1863936delins1561954_1562005inv1863937_2368676inv2368677_2489400delins1566135_1565981] - - - KCNQ1_000750 complex rearrangement, see Fig.4 for details PubMed: Beygo 2016, Journal: Beygo 2016 - - Germline yes - - 0 - DNA arraySNP, MLPA-ms, PCR, SEQ-NG - - BWS - PubMed: Beygo 2016, Journal: Beygo 2016 patient III-6 of 3-generation family, at least 3/4 previous pregnancies affected by omphalocoeles F - Serbia Caucasian - 0 - - 1 Jasmin Beygo
-/. 1 c.-5T>C - r.(=) p.(=) Unknown g.2466324T>C - 1-5T>C - KCNQ1_000760 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database PubMed: Jongbloed 2002 - - Germline - 0.10 - 0 - DNA SEQ - - Healthy/Control 12402336-? PubMed: Jongbloed 2002 data from Inherited Arrhythmias web site - - Netherlands - - 0 - - 1 Johan den Dunnen
-/. - c.-5T>C benign r.(=) p.(=) Unknown g.2466324T>C - KCNQ1:c.-5T>C - KCNQ1_000760 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-5T>C likely benign r.(=) p.(=) Unknown g.2466324T>C - KCNQ1:c.-5T>C - KCNQ1_000760 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 11i c.1514+37100_1514+37140|bsrC - r.(=) p.(=) Paternal (inferred) g.2720411_2720451||bsrC - KvDMR CG1-CG6 - KCNQ1_000000 normal methylation Kv-DMR (ICR2) PubMed: Kagami 2014 - - Somatic - - - 0 normal levels DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 in vitro fertilization-embryo transfer F no Japan - - 0 - 7y-gonadotropin-releasing hormone analog (precocious puberty, breast development) 1 Johan den Dunnen
+?/. 11i c.1514+37100|bsrC - r.(=) p.(=) Paternal (inferred) g.2720411||bsrC - KvDMR CG1 - KCNQ1_000345 normal methylation Kv-DMR (ICR2) PubMed: Kagami 2014 - - Somatic - - - 0 0.49 (controls 0.49-0.66) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 - M no Japan - - 0 - - 1 Johan den Dunnen
+?/. 11i c.1514+37107|bsrC - r.(=) p.(=) Paternal (inferred) g.2720418||bsrC - KvDMR CG2 - KCNQ1_000346 normal methylation Kv-DMR (ICR2) PubMed: Kagami 2014 - - Somatic - - - 0 0.52 (controls 0.52-0.68) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 - M no Japan - - 0 - - 1 Johan den Dunnen
+?/. 11i c.1514+37119|bsrC - r.(=) p.(=) Paternal (inferred) g.2720430||bsrC - KvDMR CG3 - KCNQ1_000347 normal methylation Kv-DMR (ICR2) PubMed: Kagami 2014 - - Somatic - - - 0 0.44 (controls 0.41-0.54) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 - M no Japan - - 0 - - 1 Johan den Dunnen
+?/. 11i c.1514+37121|bsrC - r.(=) p.(=) Paternal (inferred) g.2720432||bsrC - KvDMR CG4 - KCNQ1_000348 normal methylation Kv-DMR (ICR2) PubMed: Kagami 2014 - - Somatic - - - 0 0.46 (controls 0.42-0.55) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 - M no Japan - - 0 - - 1 Johan den Dunnen
+?/. 11i c.1514+37133|bsrC - r.(=) p.(=) Paternal (inferred) g.2720444||bsrC - KvDMR CG5 - KCNQ1_000349 normal methylation Kv-DMR (ICR2) PubMed: Kagami 2014 - - Somatic - - - 0 0.55 (controls 0.55-0.72) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 - M no Japan - - 0 - - 1 Johan den Dunnen
+?/. 11i c.1514+37140|bsrC - r.(=) p.(=) Paternal (inferred) g.2720451||bsrC - KvDMR CG6 - KCNQ1_000350 normal methylation Kv-DMR (ICR2) PubMed: Kagami 2014 - - Somatic - - - 0 0.52 (controls 0.55-0.71) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 - M no Japan - - 0 - - 1 Johan den Dunnen
+/. 5 c.726C>R - r.(?) p.(Asp242Glu) Unknown g.2593285C>R - D242E - KCNQ1_000791 data from Inherited Arrhythmias web site AHA2001 meeting abstracts - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS -? PubMed: AHA2001 meeting abs data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.? - r.? p.? Unknown g.2549205C>T - S145L - KCNQ1_000000 data from Inherited Arrhythmias web site PubMed: Liu 2006 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 16831322-? PubMed: Liu 2006 - - - China - - 0 - - 1 Johan den Dunnen
+/. 1 c.5C>T - r.(?) p.(Ala2Val) Unknown g.2466333C>T - C5T - KCNQ1_000802 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.19C>T - r.(?) p.(Pro7Ser) Unknown g.2466347C>T - C19T - KCNQ1_000803 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. - c.108insT - r.(?) p.(?) Unknown g.? - 108insT - DRD4_000002 data from Inherited Arrhythmias web site (grammar): Expected W:(acgt...) (at char 17), (line:1, col:18) PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
?/. - c.113T>C VUS r.(?) p.(Leu38Pro) Unknown g.2466441T>C - KCNQ1:c.113T>C (L38P) - KCNQ1_001026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.118C>T benign r.(=) p.(=) Unknown g.2466446C>T - KCNQ1:c.118C>T (=) - KCNQ1_001027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.136G>A - r.(?) p.(Ala46Thr) Unknown g.2466464G>A - G136A - KCNQ1_000804 data from Inherited Arrhythmias web site PubMed: Napolitano 2005 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
?/. - c.136G>A VUS r.(?) p.(Ala46Thr) Unknown g.2466464G>A - KCNQ1:NM_000218.2:c.136G>A - KCNQ1_000804 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.151_152insCGCGCCCAT VUS r.(?) p.(Leu50_Tyr51insSerArgPro) Unknown g.2466479_2466480insCGCGCCCAT - KCNQ1:c.160_168dupATCGCGCCC (I54_P56dup) - KCNQ1_001028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.151_152insT - r.(?) p.(Tyr51Leufs*234) Unknown g.2466479_2466480insT - 151_152insT - KCNQ1_000805 data from Inherited Arrhythmias web site (variantchecker): Insertion of T at position 259_260 was given, however, the HGVS notation prescribes that it should be a duplication of T at position 259_259. PubMed: Napolitano 2005 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.153C>G - r.(?) p.(Tyr51*) Unknown g.2466481C>G - C153G - KCNQ1_000806 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 15840476-? PubMed: Tester 2005 - - - United States - - 0 - - 1 Johan den Dunnen
-/. 1 c.160_168dup - r.(?) p.(Ile54_Pro56dup) Unknown g.2466488_2466496dup - 160_168dup - KCNQ1_000801 data from Inherited Arrhythmias web site PubMed: Ackerman 2003 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 14661677-? PubMed: Ackerman 2003 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
-/. 1 c.160_168dup - r.(?) p.(Ile54_Pro56dup) Unknown g.2466488_2466496dup - 160_168dup - KCNQ1_000801 data from Inherited Arrhythmias web site PubMed: Abraham 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 19646991-? PubMed: Abraham 2010 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
-/- 1 c.160_168dup - r.(?) p.(Ile54_Pro56dup) Unknown g.2466488_2466496dup - dup160-168 - KCNQ1_000801 - PubMed: Ackerman 2003 - - Germline - 4/305 controls - 0 - DNA SEQ - - - 14661677-con PubMed: Ackerman 2003 305 African American controls - - United States African Americans - 0 - - 4 Johan den Dunnen
?/. - c.160_168dup VUS r.(?) p.(Ile54_Pro56dup) Unknown g.2466488_2466496dup - KCNQ1:NM_000218.2:c.152_153insCGCGCCCAT - KCNQ1_000801 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.176delC - r.(?) p.(Pro59Glnfs*27) Unknown g.2466504delC - 176delC - KCNQ1_000807 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.190_210del - r.(?) p.(Pro64_Pro70del) Unknown g.2466518_2466538del - 190_210delCCTGCGTCCCCGGCCGCGCCC - KCNQ1_000761 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.194C>T likely benign r.(?) p.(Ala65Val) Unknown g.2466522C>T - KCNQ1:c.194C>T (A65V) - KCNQ1_001029 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.197C>T - r.(?) p.(Ser66Phe) Unknown g.2466525C>T - C197T - KCNQ1_000808 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.200_210del - r.(?) p.(Pro67Argfs*214) Unknown g.2466528_2466538del - 200_210delCGGCCGCGCCC - KCNQ1_000762 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
-/. - c.207G>T benign r.(=) p.(=) Unknown g.2466535G>T - KCNQ1:c.207G>T (=) - KCNQ1_001030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.211_219del - r.(?) p.(Ala71_Pro73del) Unknown g.2466539_2466547del - 211_219del - KCNQ1_000774 data from Inherited Arrhythmias web site PubMed: Ackerman 1999 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 10560595-? PubMed: Ackerman 1999 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.211_219del - r.(?) p.(Ala71_Pro73del) Unknown g.2466539_2466547del - del 211–219 - KCNQ1_000774 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 15840476-? PubMed: Tester 2005 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.211_219del - r.(?) p.(Ala71_Pro73del) Unknown g.2466539_2466547del - AAPdel71–73 - KCNQ1_000774 data from Inherited Arrhythmias web site PubMed: Choi 2004 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 15466642-Pat1 PubMed: Choi 2004 data from Inherited Arrhythmias web site F - United States - - 0 - - 1 Johan den Dunnen
?/. 1 c.217C>A - r.(?) p.(Pro73Thr) Maternal (confirmed) g.2466545C>A g.2445315C>A - - KCNQ1_000239 - PubMed: Riuro 2014 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS - PubMed: Riuro 2014 - - - - - - 0 - - 1 Anna Iglesias
+/. 1 c.217C>A - r.(?) p.(Pro73Thr) Unknown g.2466545C>A g.2445315C>A C217A - KCNQ1_000239 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 15840476-? PubMed: Tester 2005 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.217C>A VUS r.(?) p.(Pro73Thr) Unknown g.2466545C>A - KCNQ1:c.217C>A (P73T) - KCNQ1_000239 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.217C>A VUS r.(?) p.(Pro73Thr) Unknown g.2466545C>A - KCNQ1:c.217C>A (P73T) - KCNQ1_000239 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.220_221delCC - r.(?) p.(Pro74Serfs*210) Parent #1 g.2466548_2466549delCC g.2445318_2445319delCC 220_221delCC - KCNQ1_000746 - - - - Germline - - - 0 - DNA SEQ leukocyte - LQT-1;RWS - Fam242 2-generation family, 1M, 2F - - Germany - - 0 - - 3 Hideki Itoh
+/. 1 c.242_264delinsGCGCCCGCGG - r.(?) p.(Pro81Argfs*152) Unknown g.2466570_2466592delinsGCGCCCGCGG - 242_264delCGCGGCCGCCGGTGAGCCTAGACinsGCGCCCGCGG - KCNQ1_000763 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.273_299delinsTG - r.(?) p.(Ser92Glyfs*137) Unknown g.2466601_2466627delinsTG - 273_299delCTCCATCTACAGCACGCGCCGCCCGGTinsGG - KCNQ1_000764 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.287del - r.(?) p.(Thr96Serfs*141) Unknown g.2466615del - delC287 - KCNQ1_000809 - PubMed: Tester 2005 - - Germline - 1/541 cases LQT - 0 - DNA SEQ - - LQT 15840528-Pat PubMed: Tester 2005 541 LQT cases - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.298delG - r.(?) p.(Val100Cysfs*137) Parent #1 g.2466626delG g.2445396delG 298delG - KCNQ1_000745 - - - - Germline - - - 0 - DNA SEQ leukocyte - LQT-1;RWS - Fam1079 3-generation family, 2M, 1F - - Germany - - 0 - - 3 Hideki Itoh
-/. 1 c.328A>G - r.(?) p.(?) Unknown g.2466656A>G - A328G - KCNQ1_000810 data from Inherited Arrhythmias web site (variantchecker): A not found at position 436, found G instead. PubMed: Ackerman 2003 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 14661677-? PubMed: Ackerman 2003 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. - c.328G>A - r.(?) p.(Val110Ile) Unknown g.2466656G>A g.2445426G>A - - KCNQ1_000756 - Sahlin et al - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 5 Sahlin et al stillbirth cohort (290 cases from Sweden) M ? Sweden - 0 - - - 1 Ellika Sahlin
+/. - c.328G>A - r.(?) p.(Val110Ile) Unknown g.2466656G>A g.2445426G>A - - KCNQ1_000756 - Sahlin et al - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 228 Sahlin et al stillbirth cohort (290 cases from Sweden) M - Sweden - 0 - - - 1 Ellika Sahlin
-/- 1 c.328G>A - r.(?) p.(Val110Ile) Unknown g.2466656G>A g.2445426G>A - - KCNQ1_000756 - PubMed: Ackerman 2003 - - Germline - 1/187 controls - 0 - DNA SEQ - - - 14661710-con PubMed: Ackerman 2003 187 Caucasian controls - - United States European, white - 0 - - 1 Johan den Dunnen
+/. 1 c.332A>G - r.(?) p.(Tyr111Cys) Parent #1 g.2466660A>G g.2445430A>G - - KCNQ1_000654 - - - - Germline - - - 0 - DNA SEQ leukocyte - LQT-1;RWS - B1334 2-generation family, 0M, 2F - - France - - 0 - - 2 Hideki Itoh
+/. 1 c.332A>G - r.(?) p.(Tyr111Cys) Parent #1 g.2466660A>G g.2445430A>G - - KCNQ1_000654 - - - - Germline - - - 0 - DNA SEQ leukocyte - LQT-1;RWS - B0467 2-generation family, 2M, 2F - - France - - 0 - - 4 Hideki Itoh
+/. 1 c.332A>G - r.(?) p.(Tyr111Cys) Parent #1 g.2466660A>G g.2445430A>G - - KCNQ1_000654 - - - - Germline - - - 0 - DNA SEQ leukocyte - LQT-1;RWS - Fam673 2-generation family, 1M, 2F - - Germany - - 0 - - 3 Hideki Itoh
+/. 1 c.332A>G - r.(?) p.(Tyr111Cys) Unknown g.2466660A>G g.2445430A>G A332G - KCNQ1_000654 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. - c.332A>G pathogenic r.(?) p.(Tyr111Cys) Unknown g.2466660A>G - KCNQ1:c.332A>G (Y111C) - KCNQ1_000654 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.334_336dup - r.(?) p.(Asn112dup) Parent #1 g.2466662_2466664dup g.2445432_2445434dup - - KCNQ1_000655 - - - - Germline - - - 0 - DNA SEQ leukocyte - LQT-1;RWS - Fam740 2-generation family, 1M, 1F - - Germany - - 0 - - 2 Hideki Itoh
+/. 1 c.341T>C - r.(?) p.(Leu114Pro) Unknown g.2466669T>C - T341C - KCNQ1_000811 data from Inherited Arrhythmias web site PubMed: Jongbloed 2002 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 12402336-? PubMed: Jongbloed 2002 data from Inherited Arrhythmias web site - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 1 c.344A>G - r.(?) p.(Glu115Gly) Unknown g.2466672A>G - A344G - KCNQ1_000812 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 15840476-? PubMed: Tester 2005 - - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.345G>A benign r.(=) p.(=) Unknown g.2466673G>A - KCNQ1:c.345G>A (=) - KCNQ1_001057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.350C>T - r.(?) p.(Pro117Leu) Parent #1 g.2466678C>T g.2445448C>T - - KCNQ1_000656 - - - - Germline - - - 0 - DNA SEQ leukocyte - LQT-1;RWS - Fam61 2-generation family, 2M, 1F - - Japan - - 0 - - 3 Hideki Itoh
+/. 1 c.350C>T - r.(?) p.(Pro117Leu) Unknown g.2466678C>T g.2445448C>T C350T - KCNQ1_000656 data from Inherited Arrhythmias web site PubMed: Schwartz 2001 - - Germline - - - 0 - DNA SEQ - - SIDS 11684219-? PubMed: Schwartz 2001 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
?/. 1 c.355G>C - r.(?) p.(Gly119Arg) Parent #1 g.2466683G>C g.2445453G>C - - KCNQ1_000657 - - - - Germline - - - 0 - DNA SEQ leukocyte - LQT-1;RWS - Fam1045 2-generation family, 1M, 2F - - Germany - - 0 - - 3 Hideki Itoh
-/. 1 c.356G>A - r.(?) p.(Gly119Asp) Unknown g.2466684G>A - G356A - KCNQ1_000813 data from Inherited Arrhythmias web site PubMed: Koo SH 2006 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 16487223-? PubMed: Koo SH 2006 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.365G>A - r.(?) p.(Cys122Tyr) Unknown g.2466693G>A - G365A - KCNQ1_000814 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 15840476-? PubMed: Tester 2005 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.365insT - r.(?) p.(?) Unknown g.? - 365insT - DRD4_000002 data from Inherited Arrhythmias web site (grammar): Expected W:(acgt...) (at char 17), (line:1, col:18) PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
?/. 1 c.376C>G - r.(?) p.(His126Asp) Parent #1 g.2466704C>G g.2445474C>G - - KCNQ1_000658 - - - - Germline - - - 0 - DNA SEQ leukocyte - LQT-1;RWS - Fam936 2-generation family, 0M, 2F - - Germany - - 0 - - 2 Hideki Itoh
+/. 1 c.381C>A - r.(?) p.(Phe127Leu) Unknown g.2466709C>A - C381A - KCNQ1_000815 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
-/. 1 c.385G>A - r.(?) p.(Val129Ile) Unknown g.2466713G>A - G385A - KCNQ1_000816 data from Inherited Arrhythmias web site PubMed: Ackerman 2003 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 14661677-? PubMed: Ackerman 2003 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
-/- 1 c.385G>A - r.(?) p.(Val129Ile) Unknown g.2466713G>A - - - KCNQ1_000816 - PubMed: Ackerman 2003 - - Germline - 1/305 controls - 0 - DNA SEQ - - - 14661678-con PubMed: Ackerman 2003 305 African American controls - - United States African Americans - 0 - - 1 Johan den Dunnen
+/. 1i c.386+1G>A - r.spl? p.(?) Unknown g.2466715G>A - G386+1A - KCNQ1_000817 data from Inherited Arrhythmias web site (variantchecker): Intronic position given for a non-genomic reference sequence. PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
?/. 1i c.386+5G>A - r.spl? p.? Parent #1 g.2466719G>A g.2445489G>A - - KCNQ1_000659 - - - - Germline - - - 0 - DNA SEQ leukocyte - LQT-1;RWS - B0216 2-generation family, 1M, 2F - - France - - 0 - - 3 Hideki Itoh
+/. - c.387-5T>A ACMG 5 r.spl? p.? Both (homozygous) g.2549153T>A g.2527923T>A - - KCNQ1_000754 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - JLNS-1 - Trujillano et al., submitted unaffected heterozygous carrier parents - - - - - 0 - - 1 Daniel Trujillano
-/. 2i c.387+217C>T - r.(?) p.(?) Unknown g.2549375C>T - 387+217C>T - KCNQ1_000829 data from Inherited Arrhythmias web site (variantchecker): Intronic position given for a non-genomic reference sequence. PubMed: Jongbloed 2002 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 12402336-? PubMed: Jongbloed 2002 data from Inherited Arrhythmias web site - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 2 c.397G>A - r.(?) p.(Val133Ile) Unknown g.2549168G>A - G397A - KCNQ1_000818 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 15840476-? PubMed: Tester 2005 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.401T>C - r.(?) p.(Leu134Pro) Unknown g.2549172T>C - T401C - KCNQ1_000819 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.403delG - r.(?) p.(Val135Serfs*102) Unknown g.2549174delG - 403delG - KCNQ1_000820 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.407G>T - r.(?) p.(Cys136Phe) Unknown g.2549178G>T - G407T - KCNQ1_000821 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 15840476-? PubMed: Tester 2005 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.409C>T - r.(?) p.(Leu137Phe) Unknown g.2549180C>T - C409T - KCNQ1_000822 data from Inherited Arrhythmias web site PubMed: Napolitano 2005 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.418A>G - r.(?) p.(Ser140Gly) Unknown g.2549189A>G - A418G - KCNQ1_000823 data from Inherited Arrhythmias web site PubMed: Chen 2003 - - Germline - - - 0 - DNA SEQ - - ATFB-3 12522251-? PubMed: Chen 2003 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.430A>G - r.(?) p.(Thr144Ala) Unknown g.2549201A>G - A430G - KCNQ1_000824 data from Inherited Arrhythmias web site PubMed: Zareba 2003 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 14678125-? PubMed: Zareba 2003 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
-/. 2 c.435C>T - r.(=) p.(=) Unknown g.2549206C>T - C435T - KCNQ1_000825 data from Inherited Arrhythmias web site PubMed: Itoh 1998 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 9799083-? PubMed: Itoh 1998 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
-/. 2 c.435C>T - r.(=) p.(=) Unknown g.2549206C>T - C435T - KCNQ1_000825 data from Inherited Arrhythmias web site PubMed: Iwasa 2000 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 10807545-? PubMed: Iwasa 2000 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
-/. - c.435C>T benign r.(=) p.(=) Unknown g.2549206C>T - KCNQ1:c.435C>T (=) - KCNQ1_000825 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.436G>A - r.(?) p.(Glu146Lys) Unknown g.2549207G>A - G436A - KCNQ1_000826 data from Inherited Arrhythmias web site PubMed: Napolitano 2005 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.444T>A - r.(?) p.(Tyr148*) Parent #1 g.2549215T>A g.2527985T>A - - KCNQ1_000660 - - - - Germline - - - 0 - DNA SEQ leukocyte - LQT-1;RWS - B0205 2-generation family, 1M, 4F - - France - - 0 - - 5 Hideki Itoh
+/. 2 c.444T>A - r.(?) p.(Tyr148*) Unknown g.2549215T>A g.2527985T>A T444A - KCNQ1_000660 data from Inherited Arrhythmias web site PubMed: Gouas 2004 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 15194462-? PubMed: Gouas 2004 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.451_452delCT - r.(?) p.(Leu151Glyfs*133) Unknown g.2549222_2549223delCT - 451_452delCT - KCNQ1_000827 data from Inherited Arrhythmias web site PubMed: Chen 1999 - - Germline - - - 0 - DNA SEQ - - JLNS-1 10077519-? PubMed: Chen 1999 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
?/. - c.458C>T - r.(?) p.(Thr153Met) Unknown g.2549229C>T g.2527999C>T NM_000218:c.C458T - KCNQ1_000606 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.458C>T - r.(?) p.(Thr153Met) Unknown g.2549229C>T g.2527999C>T C458T - KCNQ1_000606 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
-/. - c.459G>A benign r.(=) p.(=) Unknown g.2549230G>A - KCNQ1:c.459G>A (=) - KCNQ1_001058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.459G>A benign r.(=) p.(=) Unknown g.2549230G>A - KCNQ1:c.459G>A (=) - KCNQ1_001058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.459G>A likely benign r.(=) p.(=) Unknown g.2549230G>A - KCNQ1:c.459G>A (=) - KCNQ1_001058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.459G>T - r.(?) p.(=) Unknown g.2549230G>T - G459G - KCNQ1_000769 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database PubMed: Gouas 2005 - - Germline - 0.00375 - 0 - DNA SEQ - - Healthy/Control 16132053-? PubMed: Gouas 2005 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.470T>G - r.(?) p.(Phe157Cys) Unknown g.2549241T>G - T470G - KCNQ1_000828 data from Inherited Arrhythmias web site PubMed: Larsen 1999 - - Germline - - - 0 - DNA SEQ - - LQT-1;RWS 10220146-? PubMed: Larsen 1999 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
?/. 2i c.477+1G>A - r.spl? p.? Parent #1 g.2549249G>A g.2528019G>A - - KCNQ1_000661 - - - - Germline - - - 0 - DNA SEQ leukocyte - LQT-1;RWS - Fam868 3-generation family, 2M, 1F - - Germany - - 0 - - 3 Hideki Itoh
+/. 2i c.477+1G>A - r.spl? p.(?) Unknown g.2549249G>A g.2528019G>A 477+1G>A - KCNQ1_000661 data from Inherited Arrhythmias web site (variantchecker): Intronic position given for a non-genomic reference sequence. PubMed: Donger 1997 - - Germline - - - 0 - DNA SEQ - - ? 9386136-? PubMed: Donger 1997 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.477+1G>A - r.spl? p.(?) Unknown g.2549249G>A g.2528019G>A 477+1G>A - KCNQ1_000661 data from Inherited Arrhythmias web site (variantchecker): Intronic position given for a non-genomic reference sequence. PubMed: Chouabe 2000 - - Germline - - - 0 - DNA SEQ - - ? 10728423-? PubMed: Chouabe 2000 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.477+1G>A - r.spl? p.(?) Unknown g.2549249G>A g.2528019G>A 477+1G>A - KCNQ1_000661 data from Inherited Arrhythmias web site (variantchecker): Intronic position given for a non-genomic reference sequence. PubMed: Splaswki 2000 - - Germline - - - 0 - DNA SEQ - - ? 10973849-? PubMed: Splaswki 2000 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.477+1G>A - r.spl p.? Unknown g.2549249G>A g.2528019G>A M159sp - KCNQ1_000661 data from Inherited Arrhythmias web site PubMed: Van Langen 2003 - - Germline - - - 0 - DNA SEQ - - LQT 12566525-? PubMed: Van Langen 2003 - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 2i c.477+1G>A - r.spl p.? Unknown g.2549249G>A g.2528019G>A M159sp - KCNQ1_000661 data from Inherited Arrhythmias web site PubMed: Choi 2004 - - Germline - - - 0 - DNA SEQ - - ? 15466642-? PubMed: Choi 2004 data from Inherited Arrhythmias web site - - United States - - 0 - - 1 Johan den Dunnen
+/. 2i c.477+1G>A - r.spl? p.(?) Unknown g.2549249G>A g.2528019G>A 477+1G>A - KCNQ1_000661 data from Inherited Arrhythmias web site (variantchecker): Intronic position given for a non-genomic reference sequence. PubMed: Zehelein 2006 - - Germline - - - 0 - DNA SEQ - - ? 16987820-? PubMed: Zehelein 2006 data from Inherited Arrhythmias web site - - - - - 0 - - 1 Johan den Dunnen
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